June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
The Israeli Inherited Retinal Diseases Consortium (IIRDC): Mapping Inherited Retinal Diseases in the Israeli Population
Author Affiliations & Notes
  • Dror Sharon
    Department of Ophthalmology, Hadassah-Hebrew Univ Medical Ctr, Jerusalem, Israel
  • Tamar Ben-Yosef
    Rappaport Faculty of Medicine, Technion, Haifa, Israel
  • Nitza Goldenberg-Cohen
    Ophthalmology, Bnai Zion Medical Center, Haifa, Israel
  • Libe Gradstein
    Soroka Medical Center and Ben-Gurion University of the Negev, Beer Sheva , Israel
  • Eran Pras
    Asaf Ha’Rofe Medical Center, Rishon Lezion , Israel
  • Anan Abbasi
    Bnai Zion Medical Center, Haifa, Israel
  • Noam Shomron
    Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel
  • Eedy Mezer
    Rappaport Faculty of Medicine, Technion, Haifa, Israel
    Rambam Medical Center, Haifa, Israel
  • Miriam Ehrenberg
    Schneider Medical Center, Petah Tikva, Israel
  • Shiri Zayit-Soudry
    Rambam Medical Center, Haifa, Israel
  • Hadas Newman
    Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel
    Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel
  • Rina Leibu
    Rambam Medical Center, Haifa, Israel
  • Ygal Rotenstreich
    Sheba Medical Center, Tel-Hashomer , Israel
  • Haim Levy
    Soroka Medical Center and Ben-Gurion University of the Negev, Beer Sheva , Israel
  • Eyal Banin
    Department of Ophthalmology, Hadassah-Hebrew Univ Medical Ctr, Jerusalem, Israel
  • Ido Perlman
    Rappaport Faculty of Medicine, Technion, Haifa, Israel
    Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel
  • Footnotes
    Commercial Relationships   Dror Sharon, None; Tamar Ben-Yosef, None; Nitza Goldenberg-Cohen, None; Libe Gradstein , None; Eran Pras, None; Anan Abbasi, None; Noam Shomron , None; Eedy Mezer, None; Miriam Ehrenberg , None; Shiri Zayit-Soudry, None; Hadas Newman , None; Rina Leibu , None; Ygal Rotenstreich, None; Haim Levy, None; Eyal Banin, None; Ido Perlman, None
  • Footnotes
    Support  Foundation Fighting Blindness USA (BR-GE-0214-0639)
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 1238. doi:
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      Dror Sharon, Tamar Ben-Yosef, Nitza Goldenberg-Cohen, Libe Gradstein, Eran Pras, Anan Abbasi, Noam Shomron, Eedy Mezer, Miriam Ehrenberg, Shiri Zayit-Soudry, Hadas Newman, Rina Leibu, Ygal Rotenstreich, Haim Levy, Eyal Banin, Ido Perlman; The Israeli Inherited Retinal Diseases Consortium (IIRDC): Mapping Inherited Retinal Diseases in the Israeli Population. Invest. Ophthalmol. Vis. Sci. 2017;58(8):1238.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Inherited Retinal Diseases (IRDs) are the most genetically heterogeneous conditions in humans, with over 250 causative genes identified to date, and more causative genes that are yet unknown. The unique structure of the Israeli population makes it an excellent resource for finding new causative genes for IRD and for studies of new therapies designed for specific IRD populations. The purpose of the study is to recruit, clinically characterize, and genetically diagnose the majority of Israeli patients with IRD.

Methods : A consortium, IIRDC (the Israeli IRD Consortium) was established that covers the whole of Israel and includes 6 genetic centers, 5 units for clinical electrophysiology of vision, and a bioinformatics lab. The clinical centers diagnose and characterize the phenotype of the IRD patients, who are then referred to the genetic centers, whose role is to seek the causative genes and mutations. The bioinformatic center analyzes data from next generation sequencing performed by the genetic centers. Ophthalmologic analysis includes visual acuity testing, visual field, electroretinography, and imaging.

Results : Our cohort of recruited IRD families currently contains over 2000 families with various phenotypes, the most prevalent being retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), cone-rod degeneration (CRD), and Usher syndrome. We performed different genetic analyses on this set of patients including genotyping of founder mutations, homozygosity mapping, and whole exome sequencing and were able to identify the cause of disease in about 45% of families. The most common causative genes are FAM161A, ABCA4, USH2A, and EYS. Since the establishment of IIRDC, we were able to accelerate the rate of recruitment. In addition, IIRDC members identified a number of novel IRD-causing genes (CEP78, CEP250 and HGSNAT) and founder mutations in known genes.

Conclusions : This is a unique consortium given the nation-wide coverage. The immediate expected outcomes include an epidemiological overview of IRD distribution and etiology in the Israeli population, identification of novel causative genes and mechanisms, and genotype-phenotype correlations. The main expected long-term outcome is a significant reduction in the prevalence and “disease load” of IRD in Israel, achieved by a combination of prevention and treatment.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.

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